Y129H (p.Tyr129His) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
Y129H (p.Tyr129His) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Y129H (p.Tyr129His) variant details
- p.Tyr129His
- TOPMed rs1739762707
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.55
- CADD 28.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available